All Tests for the Laboratory for Precision Diagnostics
| Test Name | Panel | Disease Name | Gene | Laboratory | CPT Code |
|---|---|---|---|---|---|
| ADAMTS2 gDNA Testing | Ehlers-Danlos Syndrome type VIIC (Dermatosparaxis) | ADAMTS2 | Collagen Diagnostic Lab | 81479 | |
| ALPL gDNA Testing | Hypophosphatasia | ALPL | Collagen Diagnostic Lab | 81479 | |
| C1S and C1R gDNA Testing | Ehlers-Danlos Syndrome type VIII (Periodontal) | C1R, C1S | Collagen Diagnostic Lab | 81479 | |
| COL1A1 and COL1A2 gDNA Testing | Osteogenesis Imperfecta | COL1A1, COL1A2 | Collagen Diagnostic Lab | 81408 x 2 | |
| COL3A1 gDNA testing | Ehlers-Danlos Syndrome type IV (Vascular EDS) | COL3A1 | Collagen Diagnostic Lab | 81479 | |
| COL4A1 and COL4A2 gDNA Testing | Vascular disease | COL4A1, COL4A2 | Collagen Diagnostic Lab | 81408 x 1, 81479 x 1 | |
| COL4A5 gDNA testing | Alport syndrome (X-linked) | COL4A5 | Collagen Diagnostic Lab | 81408 | |
| COL5A1 and COL5A2 gDNA Testing | Ehlers Danlos Syndrome, Classic Type (Types I and II) | COL5A1, COL5A2 | Collagen Diagnostic Lab | 81479 | |
| FBN1 gDNA Testing | Marfan syndrome | FBN1 | Collagen Diagnostic Lab | 81408 | |
| FKBP14 gDNA Testing | FKBP14-related Ehlers-Danlos Syndrome | FKBP14 | Collagen Diagnostic Lab | 81479 | |
| IFITM5 gDNA Testing | Osteogenesis Imperfecta | IFITM5 | Collagen Diagnostic Lab | 81479 | |
| PLOD1 gDNA Testing | Ehlers Danlos Syndrome type VI (Ocular-scoliotic) | PLOD1 | Collagen Diagnostic Lab | 81479 | |
| PLS3 gDNA Testing | X-Linked Osteoporosis | PLS3 | Collagen Diagnostic Lab | 81479 | |
| Alport syndrome Panel | 3 gene panel | Alport syndrome | COL4A3, COL4A4, COL4A5 | Collagen Diagnostic Lab | 81408 x 2, 81407 x 1 |
| Arterial Aneurysm Panel | 25 gene panel | Familial Aneurysm, Marfan Syndrome, Ehlers-Danlos Syndrome type IV | ACTA2, BGN, CBS, COL1A1, COL3A1, FBN1, FBN2, FOXE3, LOX, MAT2A, MFAP5, MYH11, MYLK, NOTCH1, PLOD3, PRKG1, SKI, SLC2A10, SMAD2, SMAD3, SMAD4, SMAD6, TGFB2, TGFB3, TGFBR1, TGFBR2 | Collagen Diagnostic Lab | 81410 |
| Autosomal Dominant OI Panel | 3 gene panel | Osteogenesis Imperfecta | COL1A1, COL1A2, IFITM5 | Collagen Diagnostic Lab | 81408 x 2, 81479 x 1 |
| Caffey Disease Testing | Caffey Disease, Infantile Cortical Hyperostosis | COL1A1 | Collagen Diagnostic Lab | 81403 | |
| Cardiac Arrhythmia Panel | Yes | Cardiac Arrhythmia | Selected genes | Northwest Clinical Genomics Lab | 81413 |
| Cardiomyopathy Panel | Yes | Cardiomyopathy | Selected genes | Northwest Clinical Genomics Lab | 81439 |
| Classical and Vascular Ehlers-Danlos Syndrome Panel | 3 gene panel | Ehlers Danlos Syndrome, Classic Type (Types I and II); Vascular Ehlers-Danlos Syndrome (Type IV) | COL3A1, COL5A1, COL5A2 | Collagen Diagnostic Lab | 81479 |
| Complex EDS-like Disorders | 6 gene panel | Complex EDS-like Disorders | B3GALT6, B3GAT3, B4GALT7, CHST14, CHST3, XYLT1 | Collagen Diagnostic Lab | 81479 |
| Comprehensive Cardiac Arrhythmia/Cardiomyopathy Panel | Yes | Cardiac Arrhythmia and/or Cardiomyopathy | Selected genes | Northwest Clinical Genomics Lab | 81479 |
| Comprehensive Dominant OI Panel | 8 gene panel | Osteogenesis Imperfecta | ALPL, COL1A1, COL1A2, IFITM5, LRP5, P4HB, PLS3, WNT1 | Collagen Diagnostic Lab | 81479 |
| Comprehensive EDS Panel | 15 gene panel | Ehlers-Danlos Syndrome | ADAMTS2, AEBP1, ATP7A, C1R, C1S, CHST14, COL1A1, COL1A2, COL3A1, COL5A1, COL5A2, FKBP14, FLNA, PLOD1, SLC39A13 | Collagen Diagnostic Lab | 81408 x 2, 81479 |
| Constitutional Chromosomal Microarray Analysis | 22q11.2 Deletion syndrome; Velocardiofacial syndrome; DiGeorge syndrome; Williams syndrome; 1p36 microdeletion syndrome; Beckwith-Wiedemann syndrome; uniparental disomy; other microdeletion and microduplication conditions | Whole Genome | Clinical Cytogenomics Laboratory | 81229 | |
| Cutis Laxa Panel | 13 gene panel | Cutis Laxa | ALDH18A1, ATP6V1A, ATP6V1E1, ATP6VO82, ATP7A, EFEMP2, ELN, FBLN5, GORAB, LTBP4, PYCR1, RIN2, SLC2A10 | Collagen Diagnostic Lab | 81479 |
| Deletion/Duplication Analysis | Various Genes | Collagen Diagnostic Lab | |||
| Droplet digital PCR (ddPCR) for deletions and duplications | Small deletions (200-200,000 bp), Small duplications (200-1,000,000 bp) | Clinical Cytogenomics Laboratory | 81479 | ||
| Ectopia Lentis Panel | 4 gene panel | Ectopia Lentis | ADAMTS10, ADAMTS17, ADAMTSL4, CBS, FBN1 | Collagen Diagnostic Lab | 81479 |
| EDS type VII Testing | Ehlers-Danlos Syndrome type VII | COL1A1, COL1A2 | Collagen Diagnostic Lab | 81479 x 2 | |
| Exome Sequencing | Possible Genetic Disorder | Coding sequence of the genome | Northwest Clinical Genomics Lab | 81415 Proband 81416 Comparator | |
| Exome Sequencing Re-analysis | Possible Genetic Disorder | Coding sequence of the genome | Northwest Clinical Genomics Lab | 81417 | |
| Flow Cytometry – Endoscopic Biopsy | DNA Content/Cell Cycle Analysis | Clinical Flow Laboratory | |||
| Flow Cytometry – Fresh Specimens | DNA Content/Cell Cycle Analysis | Clinical Flow Laboratory | |||
| Flow Cytometry – Paraffin Specimens | DNA Content/Cell Cycle Analysis | Clinical Flow Laboratory | |||
| FusionPlex® Pan-Heme Panel | Leukemias, Lymphomas, Myelomas, Plasma cell neoplasms | ABL1, ABL2, ALK, BCL11B, BCL2, BCL6, BCR, BIRC3, CBFB, CCND1, CCND3, CDK6, CHD1, CHIC2, CIITA, CREBBP, CRLF2, CSF1R, DEK, DUSP22, EBF1, EIF4A1, EPOR, ERG, ETV6, FGFR1, GLIS2, IKZF2, IKZF3, JAK2, KAT6A, KLF2, KMT2A, MALT1, MECOM, MKL1, MLF1, MLLT10, MLLT4, MYC, MYH11, NF1, NFKB2, NOTCH1, NTRK3, NUP214, NUP98, P2RY8, PAG1, PAX5, PBX1, PDCD1LG2, PDGFRA, PDGFRB, PICALM, PML, PRDM16, PTK2B, RARA, RBM15, ROS1, RUNX1, RUNX1T1, SEMA6A, SETD2, STIL, TAL1, TCF3, TFG, TP63, TYK2, ZCCHC7 | Clinical Cytogenomics Laboratory | 81455 | |
| FusionPlex® Solid Tumor Panel | Solid tumor, Sarcoma, Lung cancer, Thyroid cancer, Head and neck cancers, Renal cell carcinomas, Mammary gland tumors, Prostate cancer, Brain tumor | ABL1, ABL2, AKT1, AKT2, AKT3, ALK, ARHGAP26, AXL, BCOR, BRAF, BRD3, BRD4, CAMTA1, CCNB3, CCND1, CDX1, CIC, CRLF2, CSF1, CSF1R, DDIT3, DNAJB1, EGFR, EPC1, EPOR, ERBB2, ERBB4, ERG, ESR1, ESRRA, ETV1, ETV4, ETV5, ETV6, EWSR1, FGFR1, FGFR2, FGFR3, FGR, FN1, FOS, FOXO1, FUS, GLI1, HMGA2, IL2RB, INSR, ITLN1, JAK1, JAK2, JAK3, JAZF1, KIT, MAML2, MAST1, MAST2, MEAF6, MET, MGEA5, MITF, MKL2, MN1, MSMB, MUSK, MYB, MYBL1, MYC, MYCN, NCOA2, NOTCH1, NOTCH2, NR4A3, NRG1, NTRK1, NTRK2, NTRK3, NUMBL, NUTM1, PAX3, PDGFB, PDGFRA, PDGFRB, PHF1, PIK3CA, PKN1, PLAG1, PPARG, PRKACA, PRKCA, PRKCB, PTK2B, RAF1, RARA, RELA, RET, ROS1, RSPO2, RSPO3, SS18, STAT6, SYK, TAF15, TCF12, TERT, TFE3, TFEB, TFG, THADA, TMPRSS2, TSLP, TYK2, USP6, VGLL2, YAP1, YWHAE | Clinical Cytogenomics Laboratory | 81455 | |
| Marfan Syndrome and Loeys-Dietz Panel | 8 gene panel | Marfan Syndrome; Loeys-Dietz Syndrome | FBN1, SMAD2, SMAD3, SMAD4, TGFB2, TGFB3, TGFBR1, TGFBR2 | Collagen Diagnostic Lab | 81408, 81405 |
| Maternal Cell Contamination (MCC) Studies | Collagen Diagnostic Lab | 81265 | |||
| Movement Disorder Panels | Yes | Heritable Movement Disorders | Selected genes | Northwest Clinical Genomics Lab | 81479 |
| Neoplasia Chromosomal Microarray Analysis | Chromosomal and sub-chromosomal deletions; Duplications or amplification; Loss of heterozygosity (LOH) | Whole Genome | Clinical Cytogenomics Laboratory | 81277 | |
| Neurodegenerative Disorder Panels | Yes | Neurodegenerative Disease Panel | Selected genes | Northwest Clinical Genomics Lab | 81479 |
| Neuromuscular Disorder Panels | Yes | Heritable Neuromuscular Disorders | Selected genes | Northwest Clinical Genomics Lab | 81479 |
| OI and Genetic Bone Disorders Panel | 33 gene panel | Osteogenesis Imperfecta and Genetic Bone Disorders | ALPL, B3GAT3, B4GALT7, BMP1, COL1A1, COL1A2, CREB3L1, CRTAP, FAM46A, FGFR3, FKBP10, GORAB, IFITM5, LRP5, MBTPS2, NBAS, P3H1/LEPRE1, P4HB, PLOD2, PLOD3, PLS3, PPIB, RUNX2, SEC24D, SERPINF1, SERPINH1, SP7/OSX, SPARC, TAPT1, TMEM38B, TNFRSF11B, WNT1, XYLT2 | Collagen Diagnostic Lab | 81408 x 2, 81479 |
| Osteopetrosis Panel | 14 gene panel | Osteopetrosis | AMER1, CA2, CLCN7, CTSK, FAM20C, FERMT3, LEMD3, LRP5, OSTM1, PLEKHM1, SNX10, TCIRG1, TNFRSF11A, TNFSF11 | Collagen Diagnostic Lab | 81479 |
| Panel on Demand | Yes | Possible Genetic Disorder | Selected genes | Northwest Clinical Genomics Lab | 81479 |
| Prenatal Testing | Known Familial Mutations, Osteogenesis Imperfecta | Collagen Diagnostic Lab | 81479 or 81403 | ||
| Recessive OI Panel + ALPL | 13 gene panel | Osteogenesis Imperfecta | ALPL, BMP1, CREB3L1, CRTAP, FKBP10, P3H1/LEPRE1, PLOD2, PPIB, SERPINF1, SERPINH1, SP7/OSX, TMEM38B, WNT1 | Collagen Diagnostic Lab | 81479 |
| REFLEX to Exome Sequencing | Possible genetic disorder | Coding sequence of the genome | Northwest Clinical Genomics Lab | 81417 | |
| Retinal Dystrophy Panel | Yes | Retinal Dystrophy | Selected genes | Northwest Clinical Genomics Lab | 81434 |
| Stickler Syndrome Panel | 6 gene panel | Stickler syndrome | COL11A1, COL11A2, COL2A1, COL9A1, COL9A2, COL9A3 | Collagen Diagnostic Lab | 81479 |
| Targeted pre-mRNA Splicing Analysis | Connective tissue disorders | Genes expressed in fibroblasts | Collagen Diagnostic Lab | 81479 | |
| Testing for Known Mutation/Familial Variant | All diseases | All genes | Collagen Diagnostic Lab | ||
| Testing for Known Pathogenic Variant | All diseases | All genes | Northwest Clinical Genomics Lab | 81479 | |
| Y Chromosome Microdeletion Analysis | Male Infertility | AMELY, CDY1, DAZ, DBY, HSFY1, RBMY1, SRY, USP9Y | Clinical Cytogenomics Laboratory | 81403 |